[Primary cutaneous localization revealing leukemia/T-cell lymphoma associated with chronic HTLV-1 infection in a adult. A case presentation]. / Localisation cutanée révélatrice d'une leucémie/lymphome T de l'adulte.

Adult T-cell leukemia/lymphoma (ATLL) is a rare medical condition and a diagnosis that ought to be considered for patients living in an area endemic for the HTLV-1 virus (human T-lymphotrophic virus) where a T-cell lymphoproliferative diagnosis has been made. The cutaneous clinical forms may be the first manifestation of the disease. We report here an observation in a 60-year-old Senegalese woman whose skin lesions were sampled to reveal the ATLL immunophenotypic profile CD4+, CD25+, FoxP3-, and CD7-. HTLV-1 seropositivity confirmed the histopathological diagnosis, and should be corroborated by demonstration of a molecular clonal rearrangement by PCR (Polymerase Chain Reaction). This is a problem because such techniques are not always available in Africa.

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome (vEDS) results from a mutation in the gene encoding alpha-1, type III pro-collagen (COL3A1) and confers fragility to skin, ligament and vascular tissue. We tested the value of skin biopsy for diagnosis of vEDS through an ultrastructure scoring procedure. Study design was a multicentric, case-control, blinded trial consisting of two phases: phase 1 was to identify an ultra-structure score providing the best discriminative value for vEDS and phase 2 was to replicate this result in a different population. We enrolled 103 patients, 66 cases defined through the revised nosology for Ehlers-Danlos syndromes and 37 control subjects selected from patients referred for other pathologies. Ultrastructure of extracellular matrix was read by three to five experienced pathologists blinded for diagnosis. We used the receiver operating curves and logistic regression analysis for ranking ultrastructure scores. We created a detailed description of lesions observed in vEDS patients with 27 items (coded 0 or 1). In the phase 1 (17 cases and 20 controls), abnormal fibroblast shape, presence of lysosomes in the fibroblast and abnormal basal lamina were found to be independent discriminative items. Addition of these three items (defining an ultrastructure score) had the best diagnosis value (area under the curve (AUC) = 0.96). In the phase 2 (49 cases, 17 controls), ultrastructure score provided odds ratio of 9.76 (95 % CI 2.91-32.78), and AUC of 0.90. The ultrastructure score of skin biopsy has predictive value for the diagnosis of vEDS. Presence of two or more signs (either abnormal fibroblast, presence of lysosomes in the fibroblast or abnormal basal lamina) is very evocative of vEDS.

Characterization of CXCL13+ neoplastic t cells in cutaneous lesions of angioimmunoblastic T-cell lymphoma (AITL).

Skin manifestations of angioimmunoblastic T-cell lymphoma (AITL) are frequent, sometimes as first manifestations of the disease. In the absence of a specific marker for neoplastic cells, diagnosis of AITL in skin biopsies is often difficult. CD10 and CXCL13 have been recently recognized as characteristic markers of AITL, but have not been yet investigated in the skin. We analyzed 15 skin biopsies from 8 patients with AITL having skin manifestations and compared them to 14 skin biopsies from patients with various cutaneous lymphocytic infiltrates. A few CD10 lymphocytes were found in only 2 samples of the AITL group, the identification of which was hampered by the presence of a dermal CD10 cell population with dendritic features. By contrast, CXCL13 lymphoid cells were identified in most AITL cutaneous biopsies (n=12, 80%), whereas, absent in all samples from control cases. Among 12 biopsies with CXCL13 cells, cutaneous involvement by AITL was suspected in only 5 on the basis of light microscopy and classic immunophenotyping. In another case, a diagnosis of cutaneous marginal zone B-cell lymphoma had been proposed. In conclusion, this study shows that neoplastic AITL CXCL13 T cells localize in the skin and that accurate diagnosis of AITL lesions can be done in skin specimens using CXCL13 immunostaining on paraffin-embedded tissues.

Hanging groin and persistent pruritus in a patient from Burkina Faso.

Onchocerciasis is a filarial disease caused by Onchocerca volvuvus which can lead to skin, bladder or ocular signs. The authors report a 6-month history of generalized pruritus and two bilateral and symmetric masses in inguinal areas in a 57-year-old black woman. Skin snips and a biopsy of a subcutaneous nodule were diagnosed as onchocerciasis with hanging groin and the patient was treated with ivermectin with a dramatic improvement. If pruritus is the most constant symptom of onchocerciasis, hanging groin is usually observed only in hyperendemic areas in association with high microfilarial density. As no protective immune response is acquired after onchocerciasis, it is recommended that observation is maintained in communities where blindness is less common but where skin manifestations remain prevalent. There is a risk of misdiagnosing onchocerciasis owing to its long incubation period and its unfamiliarity to physicians in nonendemic areas.

Association of cutaneous side-effects of hydroxyurea and neuroendocrine carcinoma.

Many cutaneous side-effects of long term use of hydroxyurea (HU) therapy are well known. We report the first case, to our knowledge, of a neuroendocrine carcinoma located on the finger associated with other cutaneous changes due to this drug. Our patient received HU for two years for an thrombocytemia. This treatment was stopped because of a dermatomyositis-like eruption. Two years later, she developed multiple keratotic lesions, and eight years later, an Merkel cell carcinoma on the third left finger with metastasic evolution. This case suggests HU could be a cofactor of this neuroendocrine carcinoma but a simple coincidence could not be excluded.